Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.

Cecilia Marelli, Claire Guissart, Cecile Hubsch, Mathilde Renaud, Jean-Philippe Villemin, Lise Larrieu, Perrine Charles, Xavier Ayrignac, Sabrina Sacconi, Patrick Collignon, Danielle Cuntz-Shadfar, Laurine Perrin, Anelia Benarrosh, Adrian Degardin, Ouhaïd Lagha-Boukbiza, Eugenie Mutez, Bertrand Carlander, Raul Juntas Morales, Victoria Gonzalez, Clarisse Carra-Dalliere, Souhayla Azakri, Claude Mignard, Elisabeth Ollagnon, Nicolas Pageot, Dominique Chretien, Christian Geny, Jean-Philippe Azulay, Christine Tranchant, Mireille Claustres, Pierre Labauge, Mathieu Anheim, Cyril Goizet, Patrick Calvas, Michel Koenig
Human Mutation. 2016-09-02; 37(12): 1340-1353
DOI: 10.1002/humu.23063


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1. Hum Mutat. 2016 Dec;37(12):1340-1353. doi: 10.1002/humu.23063. Epub 2016 Sep 2.

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients
with Inherited Ataxias.

Marelli C(1), Guissart C(2), Hubsch C(3), Renaud M(4), Villemin JP(2), Larrieu
L(2), Charles P(5), Ayrignac X(1), Sacconi S(6), Collignon P(7), Cuntz-Shadfar
D(1)(8), Perrin L(9), Benarrosh A(10), Degardin A(11), Lagha-Boukbiza O(4), Mutez
E(12), Carlander B(1), Morales RJ(1), Gonzalez V(1), Carra-Dalliere C(1), Azakri
S(1), Mignard C(13), Ollagnon E(14), Pageot N(1), Chretien D(15), Geny C(1),
Azulay JP(16), Tranchant C(4), Claustres M(2), Labauge P(1), Anheim M(4), Goizet
C(17), Calvas P(18), Koenig M(2).

Author information:
(1)Department of Neurology, University Hospital Gui de Chauliac, Montpellier,
France.
(2)EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de
Génétique Moléculaire, University Hospital, Montpellier, France.
(3)Department of Neurology, Pitié-Salpêtrière University Hospital, Paris, France.
(4)Department of Neurology, Strasbourg University Hospital, Strasbourg, France.
(5)Department of Genetics, Pitié-Salpêtrière University Hospital, Paris, France.
(6)Peripheral Nervous System, Muscle and ALS, Neuromuscular & ALS Specialized
Center, Nice University Hospital, Pasteur 2, Nice, France.
(7)Department of Medical Genetics, Sainte Musse Hospital, Toulon, France.
(8)Department of Paediatrics, University Hospital Gui de Chauliac, Montpellier,
France.
(9)Department of Physical Medicine and Rehabilitation and Department of
Paediatric Neurology, CHU de Saint Etienne, France.
(10)Department of Neurology, Sainte Musse Hospital, Toulon, France.
(11)Department of Neurology, University Hospital Roger Salengro, Lille, France.
(12)CHU Lille, UMR-S 1172 – Centre de Recherche Jean-Pierre AUBERT Neurosciences
et Cancer, University of Lille, Inserm, Lille, France.
(13)Centre de Référence des Maladies Neuro-musculaires et Neurologiques Rares du
CHU de la Réunion, France.
(14)Department of Medical Genetics and Reference Centre for Neurological and
Neuromuscular Diseases, Croix-Rousse Hospital, Lyon, France.
(15)INSERM UMR 1141 Robert Debré Hospital and Denis Diderot University Paris 7,
Paris, France.
(16)Department of Neurology, La Timone University Hospital, Marseille, France.
(17)Department of Medical Genetics, Pellegrin University Hospital, and
laboratoire Maladies Rares Génétique et Métabolisme (MRGM), INSERM U1211,
Université Bordeaux, Bordeaux, France.
(18)Department of Clinical Genetics, Purpan University Hospital, Toulouse,
France.

Next-generation sequencing (NGS) has an established diagnostic value for
inherited ataxia. However, the need of a rigorous process of analysis and
validation remains challenging. Moreover, copy number variations (CNV) or dynamic
expansions of repeated sequence are classically considered not adequately
detected by exome sequencing technique. We applied a strategy of mini-exome
coupled to read-depth based CNV analysis to a series of 33 patients with probable
inherited ataxia and onset

Auteurs Bordeaux Neurocampus